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Article

CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: a case-control study.

International journal of molecular medicine - 1 Jun 2012

D'Angelo Rosalia, Scimone Concetta, Rinaldi Carmela, Trimarchi Giuseppe, Italiano Domenico, Bramanti Placido, Amato Aldo, Sidoti Antonina

Abstract excerpt

Cerebral cavernous malformations (CCMs) are vascular lesions of the CNS characterized by abnormally enlarged capillary cavities that can occur sporadically or as a familial autosomal dominant condition with incomplete penetrance and variable clinical expression attributable to mutations in three different genes: CCM1 (Krit1), CCM2 (MGC4607) and CCM3 (PDCD10). Among our group of CCM Italian patients, we selected a...

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Source

Identifiers

PMID: 22378217
DOI: 10.3892/ijmm.2012.927

Genes

CCM2
PDCD10

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: a case-control study.PMID 22378217Read ↗

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